| Literature DB >> 17952075 |
Patrick Sulem1, Daniel F Gudbjartsson, Simon N Stacey, Agnar Helgason, Thorunn Rafnar, Kristinn P Magnusson, Andrei Manolescu, Ari Karason, Arnar Palsson, Gudmar Thorleifsson, Margret Jakobsdottir, Stacy Steinberg, Snaebjörn Pálsson, Fridbert Jonasson, Bardur Sigurgeirsson, Kristin Thorisdottir, Rafn Ragnarsson, Kristrun R Benediktsdottir, Katja K Aben, Lambertus A Kiemeney, Jon H Olafsson, Jeffrey Gulcher, Augie Kong, Unnur Thorsteinsdottir, Kari Stefansson.
Abstract
Hair, skin and eye colors are highly heritable and visible traits in humans. We carried out a genome-wide association scan for variants associated with hair and eye pigmentation, skin sensitivity to sun and freckling among 2,986 Icelanders. We then tested the most closely associated SNPs from six regions--four not previously implicated in the normal variation of human pigmentation--and replicated their association in a second sample of 2,718 Icelanders and a sample of 1,214 Dutch. The SNPs from all six regions met the criteria for genome-wide significance. A variant in SLC24A4 is associated with eye and hair color, a variant near KITLG is associated with hair color, two coding variants in TYR are associated with eye color and freckles, and a variant on 6p25.3 is associated with freckles. The fifth region provided refinements to a previously reported association in OCA2, and the sixth encompasses previously described variants in MC1R.Entities:
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Year: 2007 PMID： 17952075 DOI： 10.1038/ng.2007.13
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330